MCID: PSD012
MIFTS: 52

Pseudoachondroplasia

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudoachondroplasia

MalaCards integrated aliases for Pseudoachondroplasia:

Name: Pseudoachondroplasia 53 12 72 23 49 24 55 71 36 13 14 69
Pseudoachondroplastic Dysplasia 53 12 49 24 55 71
Psach 53 23 49 24 71 51
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 49 24 28
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 53 12 49
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 49 55
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 71

Characteristics:

Orphanet epidemiological data:

55
pseudoachondroplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Miscellaneous:
waddling gait
onset by age 2 years
infants show normal size and appearance
most patients need hip replacement by their mid-thirties
the characteristic changes in the spine resolve by adolescence
gonadal mosaicism may occur

Inheritance:
autosomal dominant


HPO:

31
pseudoachondroplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is 100%...

Classifications:



External Ids:

OMIM 53 177170
Disease Ontology 12 DOID:0080047
Orphanet 55 ORPHA750
MESH via Orphanet 42 C535819
UMLS via Orphanet 70 C0410538
ICD10 via Orphanet 33 Q77.8
MedGen 39 C0410538
MeSH 41 D010009
KEGG 36 H00477
UMLS 69 C0410538

Summaries for Pseudoachondroplasia

NIH Rare Diseases : 49 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern. Last updated: 1/19/2011

MalaCards based summary : Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to skeletal dysplasias and spondyloepiphyseal dysplasia congenita, and has symptoms including arthralgia, osteoarthritis and genu valgum. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, and related phenotypes are limbs/digits/tail and skeleton

Disease Ontology : 12 An osteochondrodysplasia that has material basis in mutations in the COMP gene which results_in short limb dwarfism.

Genetics Home Reference : 24 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM : 53 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. Vertebral anomalies, present in childhood, usually resolve with age, but osteoarthritis is progressive and severe. PSACH and EDM1 comprise a clinical spectrum with phenotypic overlap between mild forms of PSACH and EDM1 (summary by Briggs and Chapman, 2002). (177170)

UniProtKB/Swiss-Prot : 71 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Wikipedia : 72 Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant... more...

GeneReviews: NBK1487

Related Diseases for Pseudoachondroplasia

Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 30.2 COMP MATN3 SLC26A2
2 spondyloepiphyseal dysplasia congenita 30.1 COMP SLC26A2
3 diastrophic dysplasia 30.1 COMP SLC26A2
4 achondroplasia 29.6 ACAN COMP
5 multiple epiphyseal dysplasia 28.0 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
6 pseudoachondroplastic dysplasia 2 11.0
7 achondrogenesis 10.1 COL9A2 SLC26A2
8 microcephaly, epilepsy, and diabetes syndrome 10.1
9 kniest dysplasia 10.1 COMP FMOD
10 back pain 10.1 COL9A2 COL9A3
11 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
12 atelosteogenesis 9.9 COL9A2 COMP SLC26A2
13 episodic pain syndrome, familial, 1 9.9
14 chops syndrome 9.9
15 cervicitis 9.9
16 dwarfism 9.9
17 cartilage disease 9.9 ACAN COMP
18 transient arthritis 9.9 ACAN COMP
19 achondrogenesis, type ia 9.9 ACAN SLC26A2
20 blood group, i system 9.8
21 aging 9.8
22 asthma 9.8
23 brittle bone disorder 9.8
24 odontoid hypoplasia 9.8
25 tendinopathy 9.8
26 cerebritis 9.8
27 myopathy 9.8
28 degenerative disc disease 9.7 ACAN COL9A3
29 bone development disease 9.7 COL9A2 COMP MATN3 SLC26A2
30 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.7 COL9A1 COL9A2 COL9A3
31 bone structure disease 9.7 ACAN COL9A3
32 autosomal recessive stickler syndrome 9.7 COL9A1 COL9A2 COL9A3
33 bone inflammation disease 9.6 ACAN COMP
34 stickler syndrome 9.6 COL9A1 COL9A2 COL9A3
35 achondrogenesis, type ii 9.6 ACAN COMP FMOD
36 hypochondrogenesis 9.6 ACAN COMP FMOD
37 myopia 9.6 COL9A1 COL9A2 FMOD
38 arthropathy 9.5 ACAN COMP
39 bone deterioration disease 9.5 ACAN COL9A2 COL9A3
40 intervertebral disc disease 9.5 ACAN COL9A2 COL9A3
41 osteoarthritis 9.2 ACAN COL9A1 COMP MATN3
42 spinal stenosis 9.1 ACAN COL9A1 COL9A2 COL9A3
43 osteochondritis dissecans 8.5 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to Pseudoachondroplasia

Symptoms & Phenotypes for Pseudoachondroplasia

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity
chondrocytes showed large lamellar dilatations of rough endoplasmic reticulum on electron microscopy
delayed ossification
limitations of joint function
severe osteoarthropathy

Skeletal Limbs:
brachydactyly
ligamentous laxity
limited elbow and hip extension
short tubular bones
'telescoping' fingers
more
Head And Neck Head:
normocephaly

Head And Neck Face:
normal

Skeletal Pelvis:
irregular acetabulum
round ilium

Skeletal Spine:
scoliosis
kyphosis
platyspondyly
atlantoaxial dislocation
lumbar lordosis
more
Skeletal Hands:
brachydactyly
small, irregular carpals

Neurologic Central Nervous System:
normal intelligence
cervical cord compression myelopathy

Growth Height:
specific growth curves are available
short-limb dwarfism identifiable during childhood
adult height, 82-130 cm


Clinical features from OMIM:

177170

Human phenotypes related to Pseudoachondroplasia:

55 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
2 osteoarthritis 55 31 frequent (33%) Frequent (79-30%) HP:0002758
3 genu valgum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002857
4 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
5 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
6 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
7 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hyperlordosis 55 31 frequent (33%) Frequent (79-30%) HP:0003307
9 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
10 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
11 platyspondyly 55 31 frequent (33%) Frequent (79-30%) HP:0000926
12 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
13 short palm 55 31 hallmark (90%) Very frequent (99-80%) HP:0004279
14 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
15 short foot 55 31 frequent (33%) Frequent (79-30%) HP:0001773
16 abnormality of the hip bone 55 31 hallmark (90%) Very frequent (99-80%) HP:0003272
17 genu varum 55 31 occasional (7.5%) Occasional (29-5%) HP:0002970
18 disproportionate short-limb short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008873
19 intestinal polyposis 55 31 frequent (33%) Frequent (79-30%) HP:0200008
20 hamartomatous polyposis 55 31 frequent (33%) Frequent (79-30%) HP:0004390
21 short metacarpal 55 31 hallmark (90%) Very frequent (99-80%) HP:0010049
22 hypoplasia of the odontoid process 55 31 occasional (7.5%) Occasional (29-5%) HP:0003311
23 irregular carpal bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0004236
24 waddling gait 31 HP:0002515
25 joint laxity 31 HP:0001388
26 ulnar deviation of the wrist 31 HP:0003049
27 bowing of the long bones 55 Very frequent (99-80%)
28 beaking of vertebral bodies 31 HP:0004568
29 sensory neuropathy 31 HP:0000763
30 carpal bone hypoplasia 31 HP:0001498
31 short long bone 31 HP:0003026
32 genu recurvatum 31 HP:0002816
33 brachydactyly 31 HP:0001156
34 childhood onset short-limb short stature 31 HP:0011405
35 short distal phalanx of finger 31 HP:0009882
36 lumbar hyperlordosis 31 HP:0002938
37 limited elbow extension 31 HP:0001377
38 irregular epiphyses 31 HP:0010582
39 delayed epiphyseal ossification 31 HP:0002663
40 degenerative joint disease 55 Frequent (79-30%)
41 atlantoaxial dislocation 31 HP:0003414
42 fragmented, irregular epiphyses 31 HP:0005063
43 cervical cord compression 31 HP:0002341
44 limited hip extension 31 HP:0003093
45 ulnar deviation of the hand 31 HP:0009487
46 flared femoral metaphysis 31 HP:0002834
47 radial metaphyseal irregularity 31 HP:0004019
48 ulnar metaphyseal irregularity 31 HP:0004042
49 small epiphyses of the phalanges of the hand 31 HP:0010236
50 spatulate ribs 31 HP:0012307

UMLS symptoms related to Pseudoachondroplasia:


waddling gait, ulnar deviation of the wrist

MGI Mouse Phenotypes related to Pseudoachondroplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.43 COL9A1 COL9A2 COMP FMOD MATN3 SLC26A2
2 skeleton MP:0005390 9.1 COL9A1 COL9A2 COMP FMOD MATN3 SLC26A2

Drugs & Therapeutics for Pseudoachondroplasia

Search Clinical Trials , NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

Genetic tests related to Pseudoachondroplasia:

# Genetic test Affiliating Genes
1 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 28 COMP

Anatomical Context for Pseudoachondroplasia

MalaCards organs/tissues related to Pseudoachondroplasia:

38
Bone

Publications for Pseudoachondroplasia

Articles related to Pseudoachondroplasia:

(show top 50) (show all 113)
# Title Authors Year
1
Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel<i>COMP</i>Mutation. ( 29104872 )
2017
2
Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation. ( 28044000 )
2017
3
Novel therapeutic interventions for pseudoachondroplasia. ( 28336490 )
2017
4
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. ( 28685811 )
2017
5
Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 29162415 )
2017
6
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. ( 27432013 )
2016
7
Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia. ( 27299778 )
2016
8
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. ( 27330822 )
2016
9
Pseudoachondroplasia and painful sequelae. ( 26177939 )
2015
10
Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. ( 25859006 )
2015
11
Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia. ( 24558358 )
2014
12
Pseudoachondroplasia/COMP - translating from the bench to the bedside. ( 24892720 )
2014
13
A novel COMP mutation in a Chinese patient with pseudoachondroplasia. ( 23562786 )
2013
14
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. ( 24194321 )
2013
15
Pseudoachondroplasia: a case report. ( 24364233 )
2013
16
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child]. ( 24229584 )
2013
17
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. ( 22154935 )
2012
18
Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. ( 22426567 )
2012
19
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. ( 22006726 )
2012
20
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. ( 21922596 )
2012
21
Difficult to control asthma in the patient with pseudoachondroplasia. ( 22675014 )
2011
22
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. ( 21599986 )
2011
23
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. ( 21644213 )
2011
24
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. ( 20819661 )
2010
25
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 19808781 )
2010
26
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype. ( 21042783 )
2010
27
Ilizarov treatment for extreme bilateral genu recurvatum in a pseudoachondroplasia patient: a case report. ( 20306977 )
2010
28
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. ( 20830670 )
2010
29
Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia. ( 19320037 )
2009
30
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. ( 19762713 )
2009
31
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. ( 18546327 )
2008
32
Pseudoachondroplasia: A rare cause of rhizomelic dwarfism. ( 19753240 )
2008
33
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. ( 17200202 )
2007
34
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. ( 17588960 )
2007
35
Upper cervical spine instability in pseudoachondroplasia. ( 17878785 )
2007
36
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. ( 17579668 )
2007
37
Deformity correction with external fixator in pseudoachondroplasia. ( 16957646 )
2007
38
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. ( 16286662 )
2006
39
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. ( 16514635 )
2006
40
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. ( 16928687 )
2006
41
Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia. ( 15523619 )
2005
42
A disorder resembling pseudoachondroplasia but without COMP mutation. ( 15551305 )
2005
43
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. ( 15756302 )
2005
44
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. ( 15880723 )
2005
45
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. ( 15183431 )
2004
46
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). ( 14580238 )
2004
47
Mesomelic dwarfism in pseudoachondroplasia. ( 15552564 )
2004
48
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. ( 15266613 )
2004
49
Role of TSP-5/COMP in pseudoachondroplasia. ( 15094116 )
2004
50
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. ( 12792737 )
2003

Variations for Pseudoachondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

71 (show all 30)
# Symbol AA change Variation ID SNP ID
1 COMP p.Asp290Asn VAR_007614
2 COMP p.Gly299Arg VAR_007615
3 COMP p.Cys328Arg VAR_007616 rs137852653
4 COMP p.Asp349Val VAR_007618
5 COMP p.Cys387Gly VAR_007625
6 COMP p.Gly440Glu VAR_007628
7 COMP p.Gly440Arg VAR_007629
8 COMP p.Cys468Tyr VAR_007632 rs137852651
9 COMP p.Asp472Tyr VAR_007634 rs137852650
10 COMP p.Asp473Gly VAR_007635 rs28936669
11 COMP p.Asp482Gly VAR_007637
12 COMP p.Asp518Asn VAR_007639
13 COMP p.Thr585Met VAR_007641 rs312262900
14 COMP p.Thr585Arg VAR_007642 rs312262900
15 COMP p.Cys348Arg VAR_017102 rs137852656
16 COMP p.Gly719Asp VAR_017103 rs137852655
17 COMP p.Pro234Ser VAR_066790 rs557483957
18 COMP p.Asp290Gly VAR_066791
19 COMP p.Asp326Tyr VAR_066796
20 COMP p.Asp378Val VAR_066803
21 COMP p.Cys387Arg VAR_066807
22 COMP p.Asp446Asn VAR_066815
23 COMP p.Cys448Ser VAR_066816
24 COMP p.Asp473His VAR_066819
25 COMP p.Asp475Asn VAR_066820
26 COMP p.Asp507Gly VAR_066822
27 COMP p.Asp511Gly VAR_066823
28 COMP p.Asp515Gly VAR_066824
29 COMP p.Thr529Ile VAR_066825 rs312262903
30 COMP p.Gly719Ser VAR_066828 rs312262904

ClinVar genetic disease variations for Pseudoachondroplasia:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 COMP NM_000095.2(COMP): c.1414G> T (p.Asp472Tyr) single nucleotide variant Pathogenic rs137852650 GRCh37 Chromosome 19, 18896850: 18896850
2 COMP NM_000095.2(COMP): c.1403G> A (p.Cys468Tyr) single nucleotide variant Pathogenic rs137852651 GRCh37 Chromosome 19, 18896861: 18896861
3 COMP COMP, 3-BP DEL, 459TCA deletion Pathogenic
4 COMP COMP, 3-BP DEL, (GAC)4 deletion Pathogenic
5 COMP NM_000095.2(COMP): c.982T> C (p.Cys328Arg) single nucleotide variant Pathogenic rs137852653 GRCh37 Chromosome 19, 18898453: 18898453
6 COMP NM_000095.2(COMP): c.1418A> G (p.Asp473Gly) single nucleotide variant Pathogenic rs28936669 GRCh37 Chromosome 19, 18896846: 18896846
7 COMP NM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp) NT expansion Pathogenic rs312262897 GRCh37 Chromosome 19, 18896845: 18896847
8 COMP NM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp) duplication Pathogenic rs312262898 GRCh37 Chromosome 19, 18896845: 18896847
9 COMP NM_000095.2(COMP): c.2156G> A (p.Gly719Asp) single nucleotide variant Pathogenic rs137852655 GRCh37 Chromosome 19, 18893935: 18893935
10 COMP NM_000095.2(COMP): c.1042T> C (p.Cys348Arg) single nucleotide variant Pathogenic rs137852656 GRCh37 Chromosome 19, 18898393: 18898393
11 COMP COMP, 533-BP DEL, EX9 deletion Pathogenic
12 COMP COMP, 3-BP DEL, (GAC)2 deletion Pathogenic
13 COMP NM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del) deletion Pathogenic rs312262897 GRCh37 Chromosome 19, 18896845: 18896847
14 COMP NM_000095.2: c.1679A> G single nucleotide variant Pathogenic
15 COMP NM_000095.2(COMP): c.1747G> A (p.Glu583Lys) single nucleotide variant Pathogenic rs312262899 GRCh37 Chromosome 19, 18895873: 18895873
16 COMP NM_000095.2(COMP): c.1754C> A (p.Thr585Lys) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
17 COMP NM_000095.2(COMP): c.1754C> G (p.Thr585Arg) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
18 COMP NM_000095.2(COMP): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
19 COMP NM_000095.2(COMP): c.1760A> G (p.His587Arg) single nucleotide variant Pathogenic/Likely pathogenic rs312262901 GRCh37 Chromosome 19, 18895860: 18895860
20 COMP NM_000095.2(COMP): c.2155G> A (p.Gly719Ser) single nucleotide variant Pathogenic rs312262904 GRCh37 Chromosome 19, 18893936: 18893936
21 COMP NM_000095.2(COMP): c.1126G> T (p.Asp376Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 18787500: 18787500

Expression for Pseudoachondroplasia

Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for Pseudoachondroplasia

Pathways related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 ACAN COL9A1 COL9A2 COL9A3
2
Show member pathways
12.7 ACAN COL9A1 COL9A2 COL9A3
3
Show member pathways
12.6 COL9A1 COL9A2 COL9A3 COMP
4
Show member pathways
12.52 COL9A1 COL9A2 COL9A3 COMP
5
Show member pathways
12.15 ACAN COL9A1 COL9A2 COL9A3 COMP FMOD
6
Show member pathways
11.77 ACAN COL9A1 COL9A2 COL9A3
7
Show member pathways
11.63 COL9A1 COL9A2 COL9A3 COMP
8
Show member pathways
11.48 ACAN FMOD
9 11.07 COL9A1 COL9A2 COL9A3
10 11.01 COL9A1 COL9A3
11 10.99 ACAN COMP FMOD
12 10.92 ACAN COL9A1 COL9A2 COL9A3 COMP FMOD
13
Show member pathways
10.76 ACAN FMOD
14 10.61 ACAN COL9A1 COL9A2 COL9A3

GO Terms for Pseudoachondroplasia

Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 ACAN COL9A1 COL9A2 COL9A3 COMP FMOD
2 endoplasmic reticulum lumen GO:0005788 9.56 COL9A1 COL9A2 COL9A3 MATN3
3 extracellular matrix GO:0031012 9.54 ACAN COMP FMOD
4 collagen trimer GO:0005581 9.5 COL9A1 COL9A2 COL9A3
5 lysosomal lumen GO:0043202 9.4 ACAN FMOD
6 proteinaceous extracellular matrix GO:0005578 9.17 ACAN COL9A1 COL9A2 COL9A3 COMP FMOD
7 collagen type IX trimer GO:0005594 9.13 COL9A1 COL9A2 COL9A3

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.32 ACAN FMOD
2 keratan sulfate biosynthetic process GO:0018146 9.26 ACAN FMOD
3 skeletal system development GO:0001501 9.26 ACAN COL9A2 COMP MATN3
4 keratan sulfate catabolic process GO:0042340 9.16 ACAN FMOD
5 extracellular matrix organization GO:0030198 9.1 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3

Molecular functions related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 ACAN COMP MATN3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL9A1 COL9A2 COL9A3

Sources for Pseudoachondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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